A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1027784



Internal ID19117002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:176131539..176241562hg38UCSC Ensembl
Innerchr5:175558542..175668565hg19UCSC Ensembl
Innerchr5:175491148..175601171hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38110024
hg19110024
hg18110024
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5841n100
Supporting Variantsnssv3649260
Samples
Known GenesLOC643201, SIMC1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1027784
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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